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Items: 5

1.

Multicentric plasma cell variant of Castleman disease

MedGen UID:
762089
Concept ID:
C3541461
Finding
2.

Cranioosteoarthropathy

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
3.

Malformation of cortical development

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay. [from MeSH]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
4.

Macular corneal dystrophy Type I

Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). [from OMIM]

MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
5.

Multiple carboxylase deficiency

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. [from MeSH]

MedGen UID:
10119
Concept ID:
C0026755
Disease or Syndrome
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